Podcast
Questions and Answers
What is a common inheritance pattern for Marfan's syndrome?
What is a common inheritance pattern for Marfan's syndrome?
- It is acquired through environmental factors.
- It only occurs in individuals with no family history.
- It can be inherited from family members. (correct)
- It is caused by a viral infection.
Which symptom is NOT typically associated with Marfan's syndrome?
Which symptom is NOT typically associated with Marfan's syndrome?
- Long digits
- Bone deformities in early infancy (correct)
- Spondylolesthesis
- Tall stature
What condition is characterized as brittle bone disease?
What condition is characterized as brittle bone disease?
- Scoliosis
- Marfan's syndrome
- Osteogenesis Imperfecta (OI) (correct)
- Spondylolesthesis
In Osteogenesis Imperfecta, what is the underlying issue that leads to its symptoms?
In Osteogenesis Imperfecta, what is the underlying issue that leads to its symptoms?
How does Osteogenesis Imperfecta manifest in severe cases during infancy?
How does Osteogenesis Imperfecta manifest in severe cases during infancy?
Which of the following is a characteristic feature of Marfan's syndrome?
Which of the following is a characteristic feature of Marfan's syndrome?
What is one of the common clinical features associated with Osteogenesis Imperfecta?
What is one of the common clinical features associated with Osteogenesis Imperfecta?
What condition might lead to deteriorating effects on other disorders such as scoliosis?
What condition might lead to deteriorating effects on other disorders such as scoliosis?
What is a characteristic of Spondyloepiphysial dysplasia (SED)?
What is a characteristic of Spondyloepiphysial dysplasia (SED)?
Which developmental feature is common in infants with SED congenita?
Which developmental feature is common in infants with SED congenita?
What spinal condition is often observed in older children with SED?
What spinal condition is often observed in older children with SED?
Hereditary multiple exostosis primarily affects which part of the skeleton?
Hereditary multiple exostosis primarily affects which part of the skeleton?
What is the growth behavior of exostoses in hereditary multiple exostosis?
What is the growth behavior of exostoses in hereditary multiple exostosis?
What skeletal change is associated with adult SED sufferers?
What skeletal change is associated with adult SED sufferers?
Which of the following qualities is least likely associated with SED?
Which of the following qualities is least likely associated with SED?
How do SED patients typically stand?
How do SED patients typically stand?
Which category of genetic disorders specifically involves issues with cartilage and bone growth?
Which category of genetic disorders specifically involves issues with cartilage and bone growth?
What is the classification of osteogenesis imperfecta?
What is the classification of osteogenesis imperfecta?
Which of the following is a characteristic of dysplasias with predominantly epiphyseal changes?
Which of the following is a characteristic of dysplasias with predominantly epiphyseal changes?
Which disorder is specifically identified as a chromosome disorder?
Which disorder is specifically identified as a chromosome disorder?
Which aspect does not describe genetic disorders of cartilage and bone growth?
Which aspect does not describe genetic disorders of cartilage and bone growth?
What is a key feature of generalized joint laxity?
What is a key feature of generalized joint laxity?
Which of the following correctly describes enzyme defects in the context of genetic disorders?
Which of the following correctly describes enzyme defects in the context of genetic disorders?
What is a common outcome of dysplasia with epiphyseal changes?
What is a common outcome of dysplasia with epiphyseal changes?
What is the overall prevalence of congenital loss of the limb (limb deficiency) at birth?
What is the overall prevalence of congenital loss of the limb (limb deficiency) at birth?
Which of the following is NOT listed as a possible cause of localized malformations?
Which of the following is NOT listed as a possible cause of localized malformations?
In terms of limb deficiencies, which type is more common?
In terms of limb deficiencies, which type is more common?
What characteristic defines a transverse limb deficiency?
What characteristic defines a transverse limb deficiency?
Which vitamin is known to cause hypoplastic or absent limbs in congenital limb deficiency?
Which vitamin is known to cause hypoplastic or absent limbs in congenital limb deficiency?
How are localized malformations typically discovered?
How are localized malformations typically discovered?
What primarily causes most limb deficiencies?
What primarily causes most limb deficiencies?
Which of the following options accurately describes localized malformations?
Which of the following options accurately describes localized malformations?
What is the most common deficiency of the upper limb?
What is the most common deficiency of the upper limb?
Which type of ulnar deficiency is characterized by a stable elbow joint?
Which type of ulnar deficiency is characterized by a stable elbow joint?
Which of the following is NOT commonly associated with limb deficiencies?
Which of the following is NOT commonly associated with limb deficiencies?
In ulnar deficiency, what is a characteristic feature of Type 2?
In ulnar deficiency, what is a characteristic feature of Type 2?
What percentage of limb deficiency cases is associated with congenital disorders?
What percentage of limb deficiency cases is associated with congenital disorders?
Which of the following findings is commonly associated with radial deficiency?
Which of the following findings is commonly associated with radial deficiency?
What condition is described by a child missing an ulna with an unstable elbow?
What condition is described by a child missing an ulna with an unstable elbow?
Which of the following statements is true regarding bilateral limb deficiencies?
Which of the following statements is true regarding bilateral limb deficiencies?
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Study Notes
Learning Outcomes
- Recognizing genetic disorders and malformations is essential in orthopaedics.
Genetic Disorders: Overview
- Chondro-osteodystrophies include genetic disorders affecting cartilage and bone growth.
- Dysplasias are categorized based on the specific areas affected:
- Epiphyseal changes
- Epiphyseal and metaphyseal changes
- Diaphyseal changes
Key Genetic Disorders
- Osteogenesis Imperfecta (OI), known as brittle bone disease, is characterized by fragile bones.
- Generalized joint laxity is another common genetic disorder.
- Enzyme defects and chromosome disorders, such as Down's syndrome, are significant contributors to genetic issues.
Dysplasia: Epiphyseal Changes
- Multiple Epiphyseal Dysplasia (MED) varies from mild to life-threatening conditions with widespread skeletal involvement.
- Long bone epiphyses develop abnormally, often resulting in pain and deformity, though facial and spinal structures remain normal.
- Spondyloepiphysial Dysplasia (SED) features vertebral anomalies, irregularities, and physical deformities that evolve over time.
Spondyloepiphysial Dysplasia (SED)
- In infants, SED presents as short limbs and a very short neck.
- Older children may display dorsal kyphosis and barrel-shaped chests.
- Adults with SED might experience severe scoliosis and marked lumbar lordosis.
Hereditary Multiple Exostosis
- The most common form of dysplasia, resulting in multiple exostoses appearing at long bone metaphyses and apophyses.
- Each exostosis is cartilage-covered and continues to grow, potentially leading to deformities.
Connective Tissue Disorders
- Marfan's syndrome affects bones, joints, ligaments, eyes, and the cardiovascular system, characterized by tall stature and long digits.
- Osteogenesis Imperfecta (OI) is a common inherited disorder affecting collagen synthesis, leading to fragile bones and deformities from early childhood.
Congenital Malformations
- Localized malformations can affect vertebrae or limbs, often discovered incidentally and mainly considered idiopathic.
- Maternal infections or drug exposures may also contribute to these anomalies.
Limb Deficiencies: Types
- Prevalence: 7.9 per 10,000 live births, often linked to primary growth inhibition of embryonic tissues.
- Longitudinal deficiencies (more common) involve specific structural abnormalities, while transverse deficiencies resemble amputation stumps.
Radial and Ulnar Deficiencies
- Radial deficiencies result in a shorter forearm and underdeveloped hand; approximately 50% of cases are bilateral.
- Ulnar deficiencies range from mild (Type 1) to severe (Type 4), affecting the structure and stability of the arm.
Conclusion
- Understanding these genetic disorders and malformations is vital for effective treatment and management in orthopaedics.
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